Preferred Name |
Rubinstein-Taybi syndrome |
|
Synonyms |
16p13.3 deletion syndrome |
|
ID |
http://www.limics.org/hrdo/rdfns#pat_id_151 |
|
ageOfOnset |
Neonatal/infancy Neonatale/prima infanzia Neonatal/infância Neonatal/infancy Neonatal / infancia Néonatal/petite enfance Neonatal/Kleinkindalter |
|
altLabel |
16p13.3 deletion syndrome Deletion-16p13.3-Syndrom Syndrome de délétion 16p13.3 Sindrome da delezione 16p13.3 |
|
id_MedDRA |
10039281 |
|
id_Medline | ||
id_MeSH |
D012415 |
|
id_MIM |
180849 610543 613684 |
|
id_OMS |
Q87.2 |
|
id_Orpha |
783 |
|
id_SNOMEDCT |
45582004 |
|
id_UMLS |
C0035934 |
|
inheritance |
Autosomal dominant Autosomique dominant Autosomal dominant Autosomica dominante Autosómico dominate Autosomal-dominant Autossómica dominante |
|
patType |
malformation syndrome |
|
prefixIRI |
hrdo:pat_id_151 |
|
prefLabel |
Rubinstein-Taybi-Syndrom Síndrome de Rubinstein-Taybi Sindrome di Rubinstein-Taybi Syndrome de Rubinstein-Taybi Rubinstein-Taybi syndrome Síndrome de Rubinstein-Taybi |
|
prevalence |
1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 |
|
subClassOf |